MCID: LMT001
MIFTS: 49

Limited Scleroderma

Categories: Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Immune diseases

Aliases & Classifications for Limited Scleroderma

MalaCards integrated aliases for Limited Scleroderma:

Name: Limited Scleroderma 12 15
Limited Cutaneous Systemic Sclerosis 12 53 59
Systemic Sclerosis Sine Scleroderma 53 59 73
Limited Cutaneous Systemic Scleroderma 53 59
Limited Systemic Sclerosis 53 59
Scleroderma, Limited 44 73
Progressive Systemic Sclerosis Sine Scleroderma 53
Systemic Sclerosis, Limited 12
Scleroderma, Sine 53
Crest Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
limited cutaneous systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
limited systemic sclerosis
Inheritance: Not applicable; Age of onset: Adult;

Classifications:



Summaries for Limited Scleroderma

NIH Rare Diseases : 53 Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual. 

MalaCards based summary : Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to crest syndrome and systemic scleroderma. An important gene associated with Limited Scleroderma is CAV1 (Caveolin 1), and among its related pathways/superpathways are Immune response Antigen presentation by MHC class II and NF-kappaB Signaling. The drugs Bupivacaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and thyroid, and related phenotypes are hypopigmented skin patches and dysphagia

Related Diseases for Limited Scleroderma

Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 crest syndrome 32.6 CENPB TOP1 UBTF
2 systemic scleroderma 31.6 CENPA CENPB CTGF TOP1
3 scleroderma, familial progressive 30.2 CTGF TOP1
4 diffuse scleroderma 29.9 MNDA PYHIN1 TOP1
5 reynolds syndrome 11.0
6 rheumatoid factor-negative juvenile idiopathic arthritis 10.6 HLA-DRB1 IL2RA
7 berylliosis 10.6 HLA-DRB1 IL2
8 pure red-cell aplasia 10.5 HLA-DRB1 IL2 IL2RA
9 recurrent respiratory papillomatosis 10.5 HLA-DRB1 IL2
10 dyskinesia of esophagus 10.4 CENPB TOP1 UBTF
11 collagen disease 10.3 CENPB CTGF TOP1
12 autoimmune disease 10.1 CENPB HLA-DRB1 IL2 IL2RA IRF5
13 rheumatic disease 9.9 CENPA CENPB HLA-DRB1 IL2RA TOP1
14 pulmonary hypertension 9.8
15 connective tissue disease 9.8 CENPB HLA-DRB1 TOP1
16 biliary cirrhosis, primary, 1 9.8
17 glomerulonephritis 9.8
18 primary biliary cirrhosis 9.8
19 calcinosis 9.8
20 thyroiditis 9.8
21 vasculitis 9.8
22 primary biliary cholangitis 9.8
23 renal cell carcinoma, nonpapillary 9.6
24 pulmonary hypertension, primary, 1 9.6
25 myasthenia gravis 9.6
26 sjogren syndrome 9.6
27 aging 9.6
28 arteriovenous fistula 9.6
29 osteonecrosis 9.6
30 pemphigus foliaceus 9.6
31 thrombotic thrombocytopenic purpura 9.6
32 esophagus melanoma 9.6
33 esophagitis 9.6
34 melanoma 9.6
35 interstitial lung disease 9.6
36 lipid pneumonia 9.6
37 purpura 9.6
38 pneumonia 9.6
39 lung disease 9.6
40 pemphigus 9.6
41 fibrillary glomerulonephritis 9.6
42 myasthenia gravis congenital 9.6
43 pauci-immune glomerulonephritis 9.6
44 diffuse cutaneous systemic sclerosis 9.6 CAV1 CCR6 CTGF HLA-DRB1 IFI16 IRF5

Graphical network of the top 20 diseases related to Limited Scleroderma:



Diseases related to Limited Scleroderma

Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
4 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
5 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
6 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
7 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
8 contractures involving the joints of the feet 59 32 occasional (7.5%) Occasional (29-5%) HP:0008366
9 joint contracture of the hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0009473
10 mucosal telangiectasiae 59 32 frequent (33%) Frequent (79-30%) HP:0100579
11 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
12 narrow foramen obturatorium 59 32 hallmark (90%) Very frequent (99-80%) HP:0100958
13 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
14 abnormality of the skin 59 Very frequent (99-80%)
15 abnormality of skin pigmentation 59 Very frequent (99-80%)

Drugs & Therapeutics for Limited Scleroderma

Drugs for Limited Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
2 Anesthetics Phase 2, Phase 3,Not Applicable
3 Anesthetics, Local Phase 2, Phase 3
4 Central Nervous System Depressants Phase 2, Phase 3
5 Peripheral Nervous System Agents Phase 2, Phase 3
6
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
7
Racepinephrine Approved Not Applicable 329-65-7 838
8
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805
9 Antihypertensive Agents Not Applicable
10 Autoantibodies
11 Mitogens
12 Analgesics Not Applicable
13 Epinephryl borate Not Applicable
14 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
2 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
3 Efficacy of Ambrisentan in Limited Scleroderma Patients in Improving Blood Flow to Hands or Feet Completed NCT01072669 Not Applicable ambrisentan
4 Stimulatory Autoantibodies to the Platelet-Derived Growth Factor Receptor (PDGFR) in Patients With Systemic Sclerosis Completed NCT00667134
5 Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft Completed NCT01133730 Not Applicable Active treatment;Placebo Arm
6 Systemic Sclerosis Clinical and Biomarker Study Withdrawn NCT02531009

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

MalaCards organs/tissues related to Limited Scleroderma:

41
Skin, Bone, Thyroid, Endothelial, T Cells, Heart, Lung

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show top 50) (show all 66)
# Title Authors Year
1
Lymphedema secondary to limited cutaneous systemic sclerosis. ( 29909388 )
2018
2
Radiological pleuroparenchymal fibroelastosis associated to limited cutaneous systemic sclerosis: a case report. ( 29776440 )
2018
3
Calcific prepatellar bursitis in a patient with limited cutaneous systemic sclerosis. ( 29228498 )
2017
4
Severe Calcinosis in Limited Cutaneous Systemic Sclerosis. ( 28824081 )
2017
5
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. ( 29308290 )
2017
6
Active subcutaneous calcinosis demonstrated by fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography in a case of limited cutaneous systemic sclerosis. ( 27095870 )
2016
7
Fibrillary glomerulonephritis associated with limited scleroderma: a case report. ( 26709524 )
2016
8
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). ( 27353193 )
2016
9
Systemic sclerosis - a multi-purpose use of ultrasound: Editorial comment on: G. PracoA8, M. PA8aza, M. Walentowska-Janowicz, I. SudoA8-SzopiA8ska The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 27104009 )
2016
10
Successful long-term (22 Year) treatment ofA limited scleroderma using therapeutic plasma exchange: Is blood rheology theA key? ( 27340761 )
2016
11
The HLA-B*35 allele modulates ER stress, inflammation and proliferation in PBMCs from Limited Cutaneous Systemic Sclerosis patients. ( 26669670 )
2015
12
The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 26675049 )
2015
13
Osteonecrosis of Multiple Joints in a Patient With Limited Scleroderma/CREST Syndrome. ( 25807102 )
2015
14
Increased Serum Levels of the IL-33 Neutralizing sST2 in Limited Cutaneous Systemic Sclerosis. ( 26095613 )
2015
15
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. ( 25393970 )
2014
16
Serum levels of soluble carbonic anhydrase IX are decreased in patients with diffuse cutaneous systemic sclerosis compared to those with limited cutaneous systemic sclerosis. ( 25030848 )
2014
17
Systemic sclerosis sine scleroderma and limited cutaneous systemic sclerosis: similarities and differences. ( 24776173 )
2014
18
Increased expression of endoplasmic reticulum stress and unfolded protein response genes in peripheral blood mononuclear cells from patients with limited cutaneous systemic sclerosis and pulmonary arterial hypertension. ( 23400395 )
2013
19
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. ( 23656799 )
2013
20
A case of neuromyelitis optica spectrum disorder associated with a limited cutaneous systemic sclerosis and SjAPgren syndrome. ( 24097316 )
2013
21
Improved survival in limited scleroderma-related pulmonary artery hypertension. ( 23361526 )
2013
22
Infected calcinosis of the knee in limited cutaneous systemic sclerosis. ( 23028028 )
2012
23
Pauci-immune crescentic glomerulonephritis in limited cutaneous systemic sclerosis. ( 22644090 )
2012
24
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma: comments on the article by Danielides et al. ( 22548259 )
2012
25
Increased prevalence of anti-thyroid antibodies in patients with limited scleroderma. ( 21417550 )
2011
26
Spontaneous pneumomediastinum in a patient with anti-centromere antibody-positive limited scleroderma. ( 21169848 )
2011
27
Lumbar canal spinal stenosis due to axial skeletal calcinosis and heterotopic ossification in limited cutaneous systemic sclerosis: successful spinal decompression. ( 21875878 )
2011
28
Acute right heart failure and achalasia-like syndrome in a patient with limited cutaneous systemic sclerosis and primary biliary cirrhosis. ( 20720358 )
2010
29
No effects of bosentan on microvasculature in patients with limited cutaneous systemic sclerosis. ( 19350343 )
2009
30
Clinically significant interstitial lung disease in limited scleroderma: histopathology, clinical features, and survival. ( 18403656 )
2008
31
Effects of olopatadine in limited scleroderma with peripheral eosinophils. ( 18822005 )
2008
32
Association of increased telomere lengths in limited scleroderma, with a lack of age-related telomere erosion. ( 18662931 )
2008
33
Pneumatosis intestinalis in limited scleroderma. ( 18260164 )
2008
34
Association of CD22 gene polymorphism with susceptibility to limited cutaneous systemic sclerosis. ( 17493148 )
2007
35
Lack of increased expression of cell surface markers for circulating fibrocyte progenitors in limited scleroderma. ( 17061153 )
2007
36
Limited cutaneous systemic sclerosis associated with discoid lupus erythematosus in two Japanese patients with anticentromere antibodies. ( 17927793 )
2007
37
Unilateral limited scleroderma-like changes following formation of an arteriovenous fistula. ( 17222301 )
2007
38
A novel autoantigen to differentiate limited cutaneous systemic sclerosis from diffuse cutaneous systemic sclerosis: the interferon-inducible gene IFI16. ( 17133607 )
2006
39
Anti-endothelial cell antibodies from patients with limited cutaneous systemic sclerosis bind to centromeric protein B (CENP-B). ( 16580263 )
2006
40
Distinct recognition of antibodies to centromere proteins in primary Sjogren's syndrome compared with limited scleroderma. ( 16414973 )
2006
41
Association of limited scleroderma and pulmonary hypertension in a patient with primary biliary cirrhosis. ( 16113494 )
2005
42
Primary esophageal melanoma in a patient with limited scleroderma. ( 16357719 )
2005
43
Calcinosis universalis in systemic sclerosis with limited scleroderma. ( 15789907 )
2005
44
[Efficacy of anti-thymocyte globulin and cyclosporin A combined therapy in aplastic anemia complicated with limited cutaneous systemic sclerosis]. ( 15863969 )
2005
45
Recurrent bronchiolitis obliterans organizing pneumonia in a patient with limited cutaneous systemic sclerosis. ( 12215870 )
2002
46
Gastric antral vascular ectasia as the only presenting feature of limited cutaneous systemic sclerosis. ( 11907373 )
2002
47
Pentoxyfilline treatment does not influence the plasma levels of IL-2 and sIL-2R in limited scleroderma patients. ( 11257736 )
2001
48
Updating the American College of Rheumatology preliminary classification criteria for systemic sclerosis: addition of severe nailfold capillaroscopy abnormalities markedly increases the sensitivity for limited scleroderma. ( 11263791 )
2001
49
Limited cutaneous systemic sclerosis associated with MPO-ANCA positive renal small vessel vasculitis of the microscopic polyangiitis type. ( 10977809 )
2000
50
Myasthenia gravis associated with limited scleroderma (CREST syndrome) ( 10701901 )
2000

Variations for Limited Scleroderma

Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for Limited Scleroderma

GO Terms for Limited Scleroderma

Cellular components related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.72 CENPA CENPB CENPC CENPS TOP1
2 kinetochore GO:0000776 9.58 CENPA CENPC CENPS
3 condensed chromosome kinetochore GO:0000777 9.54 CENPA CENPC CENPS
4 chromosome, centromeric region GO:0000775 9.46 CENPA CENPB CENPC CENPS
5 condensed nuclear chromosome kinetochore GO:0000778 9.26 CENPA CENPC
6 condensed nuclear chromosome, centromeric region GO:0000780 9.13 CENPA CENPB CENPC
7 nuclear pericentric heterochromatin GO:0031618 8.8 CENPA CENPB CENPC

Biological processes related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.8 HLA-DRB1 IFI16 IL2 IL2RA IRF5
2 sister chromatid cohesion GO:0007062 9.63 CENPA CENPC CENPS
3 positive regulation of T cell differentiation GO:0045582 9.48 IL2 IL2RA
4 regulation of regulatory T cell differentiation GO:0045589 9.43 IL2 IL2RA
5 inflammatory response to antigenic stimulus GO:0002437 9.37 HLA-DRB1 IL2RA
6 CENP-A containing nucleosome assembly GO:0034080 9.33 CENPA CENPC CENPS
7 interleukin-2-mediated signaling pathway GO:0038110 9.32 IL2 IL2RA
8 negative regulation of lymphocyte proliferation GO:0050672 9.26 IL2 IL2RA
9 regulation of T cell homeostatic proliferation GO:0046013 8.96 IL2 IL2RA
10 kinetochore assembly GO:0051382 8.8 CENPA CENPC CENPS

Molecular functions related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 CENPA CENPB CENPC CENPS IFI16 IRF5
2 double-stranded DNA binding GO:0003690 9.5 CENPS IFI16 TOP1
3 chromatin binding GO:0003682 9.35 CENPA CENPB CENPS TOP1 UBTF
4 centromeric DNA binding GO:0019237 8.62 CENPB CENPC
5 protein binding GO:0005515 10.19 ATRAID CAV1 CCR6 CENPA CENPB CENPS

Sources for Limited Scleroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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